Refined Treatment Response Criteria for Indolent Systemic Mastocytosis Proposed by the ECNM-AIM Consortium

Pyatilova, Polina; Akin, Cem; Álvarez‐Twose, Iván; Arock, Michel; Bonadonna, Patrizia; Brockow, Knut; Butterfield, Joseph H.; Broesby‐Olsen, Sigurd; Carter, Melody C.; Castells, Mariana; George, Tracy I.; Gotlib, Jason; Greiner, Georg; Gülen, Theo; Hartmann, Karin; Hermine, Olivier; Horny, Hans‐Peter; Jawhar, Mohamed; Lange, Magdalena; Lyons, Jonathan J.; Maurer, Marcus; Metcalfe, Dean D.; Nedoszytko, Bogusław; Niedoszytko, Marek; Órfão, Alberto; Reiter, Andreas; Schwaab, Juliana; Sotlar, Karl; Sperr, Wolfgang R.; Triggiani, Massimo; Valent, Peter; Siebenhaar, Frank

doi:10.1016/j.jaip.2022.05.037

Cited by 18 publications

(8 citation statements)

References 81 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Validated mastocytosisspecific patient-reported outcome measures should be used for treatment response assessment. 161 In trials of KIT inhibitors in ISM, BM MC burden, serum tryptase level, and KIT D816V VAF are being evaluated as biomarkers of response but do not necessarily correlate with the severity of mediator symptoms and quality of life.…”

Section: Prognosis and Treatmentmentioning

confidence: 99%

“…Highly selective KIT D816V inhibitors (e.g., avapritinib and bezuclastinib) are currently being assessed in clinical trials of ISM patients with refractory symptoms despite best supportive care. Validated mastocytosis‐specific patient‐reported outcome measures should be used for treatment response assessment 161 . In trials of KIT inhibitors in ISM, BM MC burden, serum tryptase level, and KIT D816V VAF are being evaluated as biomarkers of response but do not necessarily correlate with the severity of mediator symptoms and quality of life.…”

Section: Systemic Mastocytosismentioning

confidence: 99%

See 1 more Smart Citation

The international consensus classification of eosinophilic disorders and systemic mastocytosis

et al. 2023

Self Cite

View full text Add to dashboard Cite

Based on new data and increased understanding of disease molecular genetics, the international consensus classification (ICC) has made several changes in the diagnosis and classification of eosinophilic disorders and systemic mastocytosis. Myeloid/lymphoid neoplasms with eosinophilia (M/LN‐eo) and gene rearrangements have been renamed as M/LN‐eo with tyrosine kinase gene fusions (M/LN‐eo‐TK). The category has been expanded to include ETV6::ABL1 and FLT3 fusions, and to accept PCM1::JAK2 and its genetic variants as formal members. The overlaps and differences between M/LN‐eo‐TK and BCR::ABL1‐like B‐lymphoblastic leukemia (ALL)/de novo T‐ALL sharing the same genetic lesions are addressed. Besides genetics, ICC for the first time has introduced bone marrow morphologic criteria in distinguishing idiopathic hypereosinophilia/hypereosinophilic syndrome from chronic eosinophilic leukemia, not otherwise specified. The major diagnostic criteria for systemic mastocytosis (SM) in the ICC remain largely based on morphology, but several minor modifications/refinements have been made in criteria related to diagnosis, subclassification, and assessment of disease burden (B‐ and C‐findings). This review is to focus on the ICC updates related to these disease entities, illustrated through changes related to morphology, molecular genetics, clinical features, prognosis, and treatment. Two practical algorithms are provided in navigating through the diagnosis and classification systems of hypereosinophilia and SM.

show abstract

Section: Prognosis and Treatmentmentioning

confidence: 99%

Section: Systemic Mastocytosismentioning

confidence: 99%

The international consensus classification of eosinophilic disorders and systemic mastocytosis

et al. 2023

Self Cite

View full text Add to dashboard Cite

show abstract

“…Its symptoms are similar but not consistent with allergy or systemic mastocytosis, and because it affects many organs, it is very heterogeneous and not specific. Therefore, symptoms may include flushing, pruritus, urticaria, angioedema, nasal congestion, nasal pruritus, wheezing, throat swelling, headache, diarrhea, abdominal cramping, unexplained arrhythmias, and hypotensive episodes [ 95 , 98 ]. Some studies reported that up to 25% of patients with hEDS also have MCAS [ 96 ]; however, such associations raise several concerns [ 95 ].…”

Section: Ehlers–danlos Syndromementioning

confidence: 99%

Mast Cell Involvement in the Pathogenesis of Selected Musculoskeletal Diseases

Gutowski,

Kanikowski,

Formanowicz

2023

Life

View full text Add to dashboard Cite

In recent years, there has been a noteworthy revival of interest in the function of mast cells (MCs) in the human body. It is now acknowledged that MCs impact a wide array of processes beyond just allergies, leading to a shift in research direction. Unfortunately, some earlier conclusions were drawn from animal models with flawed designs, particularly centered around the receptor tyrosine kinase (Kit) pathway. Consequently, several subsequent findings may have been unreliable. Thus, what is now required is a re-examination of these earlier findings. Nevertheless, the remaining data are fascinating and hold promise for a better comprehension of numerous diseases and the development of more effective therapies. As the field continues to progress, many intriguing issues warrant further investigation and analysis. For instance, exploring the bidirectional action of MCs in rheumatoid arthritis, understanding the extent of MCs’ impact on symptoms associated with Ehlers–Danlos syndrome, and unraveling the exact role of the myofibroblast–mast cell–neuropeptides axis in the joint capsule during post-traumatic contractures are all captivating areas for exploration. Hence, in this review, we summarize current knowledge regarding the influence of MCs on the pathogenesis of selected musculoskeletal diseases, including rheumatoid arthritis, spondyloarthritis, psoriatic arthritis, gout, muscle and joint injuries, tendinopathy, heterotopic ossification, and Ehlers–Danlos syndrome. We believe that this review will provide in-depth information that can guide and inspire further research in this area.

show abstract

“…With suspected systemic mastocytosis, additional laboratory testing would include a serum 25-OH Vitamin D level, liver enzymes, serum electrolytes, albumin, prothrombin time, Vitamin B12 and beta2-microglobulin, the latter as a marker of increased cell turnover [23]. Increased beta2-microglobulin is a poor prognostic indicator in adult ISM; however, it has not been assessed as a prognostic marker in the paediatric population [24].…”

Section: Diagnostic Evaluation Of Paediatric Mastocytosismentioning

confidence: 99%

“…Increased beta2-microglobulin is a poor prognostic indicator in adult ISM; however, it has not been assessed as a prognostic marker in the paediatric population [24]. A baseline ultrasound to formally assess hepatosplenomegaly and bone densitometry should be considered when systemic mastocytosis is suspected [23]. Immunohistochemical stains on bone marrow biopsy should include staining for CD2, CD25, CD30, CD117 and tryptase [25].…”

Section: Diagnostic Evaluation Of Paediatric Mastocytosismentioning

confidence: 99%

Updates in diagnosis and management of paediatric mastocytosis

Tiano

Krase

Sacco

2022

Current Opinion in Allergy &Amp; Clinical Immunology

View full text Add to dashboard Cite

Purpose of reviewPaediatric mastocytosis is a rare clonal disorder characterized by the overproduction and organ infiltration of mast cells. Symptoms are due to mast cell mediator release. Cutaneous mastocytosis is the most common presentation in children with systemic disease being rare. Our aim is to provide a practical guideline in differentiating subtypes of paediatric mastocytosis while providing actionable recommendations on diagnosis, clinical management, follow-up and prognosis. Recent findingsLongitudinal cohort studies of paediatric cutaneous mastocytosis have shown spontaneous remission with favourable prognosis. Hereditary alpha-tryptasemia may coexist with mastocytosis; thus, screening for this disorder is recommended. There is an emerging role for serum tryptase in asthma endotyping and potential for using therapeutic tryptase inhibitors. SummaryMorbidity in paediatric mastocytosis typically arises from symptoms secondary to mast cell mediator release. Prognosis for nonaggressive disease is typically favourable; however, risks for anaphylaxis and psychosocial morbidity may be underestimated. Symptomatic management and anticipatory guidance may help support patients and families throughout the disease course.

show abstract

Refined Treatment Response Criteria for Indolent Systemic Mastocytosis Proposed by the ECNM-AIM Consortium

Cited by 18 publications

References 81 publications

The international consensus classification of eosinophilic disorders and systemic mastocytosis

The international consensus classification of eosinophilic disorders and systemic mastocytosis

Mast Cell Involvement in the Pathogenesis of Selected Musculoskeletal Diseases

Updates in diagnosis and management of paediatric mastocytosis

Contact Info

Product

Resources

About